SNORA80D

Chr 7

small nucleolar RNA, H/ACA box 80D

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Jul 2025]

19
ClinVar variants
15
Pathogenic / LP
pLI score
0
Active trials
Clinical SummarySNORA80D
📋
ClinVar Variants
15 Pathogenic / Likely Pathogenic· 4 VUS of 19 total submissions
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

19 submitted variants in ClinVar

Classification Summary

Pathogenic13
Likely Pathogenic2
VUS4
13
Pathogenic
2
Likely Pathogenic
4
VUS

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
13
Likely Pathogenic
2
VUS
4
Likely Benign
0
Benign
0
Total19

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

SNORA80D · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype

No OMIM entries found.